Canonical Allele Identifier: CA349618373

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178618076G>T , CM000664.2:g.178618076G>T GRCh38
NC_000002.11:g.179482803G>T , CM000664.1:g.179482803G>T GRCh37
NC_000002.10:g.179191048G>T NCBI36
NG_011618.3:g.217727C>A , LRG_391:g.217727C>A
NG_051363.1:g.100250G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.39571C>A (TTN) ENSP00000343764.6:p.Pro13191Thr
ENST00000342175.11:c.20656C>A (TTN) ENSP00000340554.6:p.Pro6886Thr
ENST00000359218.10:c.20455C>A (TTN) ENSP00000352154.5:p.Pro6819Thr
ENST00000342175.10:c.20656C>A (TTN) ENSP00000340554.6:p.Pro6886Thr
ENST00000342992.10:c.39571C>A (TTN) ENSP00000343764.6:p.Pro13191Thr
ENST00000359218.9:c.20455C>A (TTN) ENSP00000352154.5:p.Pro6819Thr
ENST00000460472.6:c.20080C>A (TTN) ENSP00000434586.1:p.Pro6694Thr
ENST00000589042.5:c.47275C>A (TTN) MANE Select ENSP00000467141.1:p.Pro15759Thr
ENST00000591111.5:c.42352C>A (TTN) ENSP00000465570.1:p.Pro14118Thr
ENST00000615779.4:c.42352C>A (TTN) ENSP00000483597.1:p.Pro14118Thr
NM_001256850.1:c.42352C>A (TTN) NP_001243779.1:p.Pro14118Thr
NM_001267550.2:c.47275C>A (TTN) MANE Select NP_001254479.2:p.Pro15759Thr
NM_003319.4:c.20080C>A (TTN) NP_003310.4:p.Pro6694Thr
NM_133378.4:c.39571C>A (TTN) NP_596869.4:p.Pro13191Thr
NM_133432.3:c.20455C>A (TTN) NP_597676.3:p.Pro6819Thr
NM_133437.4:c.20656C>A (TTN) NP_597681.4:p.Pro6886Thr
NR_038271.1:n.1605-1677G>T (TTN-AS1)
XM_011511729.1:c.46372C>A (TTN) XP_011510031.1:p.Pro15458Thr
XM_011511730.1:c.20266C>A (TTN) XP_011510032.1:p.Pro6756Thr
XM_011511731.1:c.20125C>A (TTN) XP_011510033.1:p.Pro6709Thr
XM_017004819.1:c.46168C>A (TTN) XP_016860308.1:p.Pro15390Thr
XM_017004820.1:c.41566C>A (TTN) XP_016860309.1:p.Pro13856Thr
XM_017004821.1:c.41563C>A (TTN) XP_016860310.1:p.Pro13855Thr
XM_017004822.1:c.38605C>A (TTN) XP_016860311.1:p.Pro12869Thr
XM_017004823.1:c.20221C>A (TTN) XP_016860312.1:p.Pro6741Thr
XM_024453094.1:c.41716C>A (TTN) XP_024308862.1:p.Pro13906Thr
XM_024453095.1:c.41713C>A (TTN) XP_024308863.1:p.Pro13905Thr
XM_024453096.1:c.41146C>A (TTN) XP_024308864.1:p.Pro13716Thr
XM_024453097.1:c.38488C>A (TTN) XP_024308865.1:p.Pro12830Thr
XM_024453098.1:c.38407C>A (TTN) XP_024308866.1:p.Pro12803Thr
XM_024453099.1:c.20170C>A (TTN) XP_024308867.1:p.Pro6724Thr
XM_024453100.1:c.10024C>A (TTN) XP_024308868.1:p.Pro3342Thr